Site-directed mutagenesis

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Site-directed mutagenesis (pronunciation: /ˈsaɪt dɪˈrɛktɪd ˌmjuːtəˈdʒɛnɪsɪs/) is a molecular biology method that is used to make specific and intentional changes to the DNA sequence of a gene and any gene products. Also known as site-specific mutagenesis or oligonucleotide-directed mutagenesis, it is used for a variety of applications, but is most commonly used in the study of disease models and gene function.

Etymology

The term "site-directed mutagenesis" is derived from the fact that the mutations are made at specific sites on the DNA molecule. The term "mutagenesis" is derived from the Latin word "mutare", meaning "to change", and the Greek word "genesis", meaning "origin".

Procedure

Site-directed mutagenesis involves the alteration of a specific DNA sequence. The method uses a DNA strand, known as a primer, that is complementary to the DNA sequence of interest, but with the desired mutation at a central position. This primer is extended using a DNA polymerase, which synthesizes a new DNA strand complementary to the template strand. The result is a DNA molecule that is identical to the original, except for the desired mutation.

Applications

Site-directed mutagenesis is used in a variety of applications, including the study of protein function, the creation of disease models, and the development of new therapies. By changing the DNA sequence, researchers can alter the amino acid sequence of a protein, potentially changing its function. This can provide valuable insights into the role of specific amino acids in protein function and the development of disease.

Related Terms

  • Primer (molecular biology): A short nucleic acid sequence that provides a starting point for DNA synthesis.
  • DNA polymerase: An enzyme that synthesizes DNA molecules from deoxyribonucleotides.
  • Mutation: A change in the DNA sequence that affects genetic information.
  • Protein function: The particular role that a protein plays in the body.
  • Disease model: A model that mimics a disease for the purpose of studying that disease.

External links

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